A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862079



Internal ID10258318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:117126569..117126649hg38UCSC Ensembl
Outerchr10:118886080..118886160hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741328, esv2741317
Supporting Variants
SamplesSSM088
Known GenesKIAA1598
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6862079
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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